Safety through design: Expanding options for spinal muscular atrophy gene therapy.
作者信息
Groen Ewout J N, Wadman Renske I
机构信息
Department of Neurology and Neurosurgery, University Medical Center Utrecht, Utrecht, the Netherlands.
出版信息
Mol Ther Methods Clin Dev. 2025 Aug 19;33(3):101550. doi: 10.1016/j.omtm.2025.101550. eCollection 2025 Sep 11.
Abstract
摘要
相似文献
1
Safety through design: Expanding options for spinal muscular atrophy gene therapy.通过设计实现安全：拓展脊髓性肌萎缩症基因治疗的选择
Mol Ther Methods Clin Dev. 2025 Aug 19;33(3):101550. doi: 10.1016/j.omtm.2025.101550. eCollection 2025 Sep 11.
2
Real-world outcomes of spinal muscular atrophy treatment with onasemnogene abeparvovec in Croatia: a comprehensive case series and literature review.克罗地亚使用onasemnogene abeparvovec治疗脊髓性肌萎缩症的真实世界结果：综合病例系列及文献综述
Front Med (Lausanne). 2025 Jun 24;12:1609072. doi: 10.3389/fmed.2025.1609072. eCollection 2025.
3
Safety and efficacy of apitegromab in nonambulatory type 2 or type 3 spinal muscular atrophy (SAPPHIRE): a phase 3, double-blind, randomised, placebo-controlled trial.阿皮特格罗单抗治疗非行走型2型或3型脊髓性肌萎缩症的安全性和有效性（蓝宝石研究）：一项3期、双盲、随机、安慰剂对照试验
Lancet Neurol. 2025 Sep;24(9):727-739. doi: 10.1016/S1474-4422(25)00225-X.
5
Safety of Risdiplam in Japanese Patients with Spinal Muscular Atrophy: A 12‑Month Interim Analysis of a Postmarketing Surveillance Study.利司扑兰在日本脊髓性肌萎缩症患者中的安全性：一项上市后监测研究的12个月中期分析
Neurol Ther. 2025 Aug 9. doi: 10.1007/s40120-025-00795-x.
6
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.每日一次利司扑兰治疗 2 型和非卧床 3 型脊髓性肌萎缩症（SUNFISH 研究 2 部分）的安全性和有效性：一项 3 期、双盲、随机、安慰剂对照试验。
Lancet Neurol. 2022 Jan;21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7.
7
Neurodevelopmental screening in children with early-onset spinal muscular atrophy in the treatment era: a strengths-based cohort study.治疗时代早发型脊髓性肌萎缩症患儿的神经发育筛查：一项基于优势的队列研究。
Brain Commun. 2025 Jul 21;7(4):fcaf272. doi: 10.1093/braincomms/fcaf272. eCollection 2025.
8
Safety and efficacy of gene therapy with onasemnogene abeparvovec in the treatment of spinal muscular atrophy: A systematic review and meta-analysis.onasemnogene abeparvovec基因治疗脊髓性肌萎缩症的安全性和有效性：一项系统评价和荟萃分析。
J Paediatr Child Health. 2023 Mar;59(3):431-438. doi: 10.1111/jpc.16340. Epub 2023 Feb 1.
9
Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review.脊髓性肌萎缩症的诊断延误：一项系统文献综述
Pediatr Neurol. 2015 Oct;53(4):293-300. doi: 10.1016/j.pediatrneurol.2015.06.002. Epub 2015 Jun 10.
10
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial.1 型脊肌萎缩症患者 risdiplam 的安全性和疗效（FIREFISH 第 2 部分）：一项开放标签试验的次要分析。
Lancet Neurol. 2022 Dec;21(12):1110-1119. doi: 10.1016/S1474-4422(22)00339-8. Epub 2022 Oct 14.
本文引用的文献
1
Efficacy and preliminary safety assessment of EXG001-307 AAV gene therapy for spinal muscular atrophy.EXG001-307腺相关病毒基因疗法治疗脊髓性肌萎缩症的疗效及初步安全性评估
Mol Ther Methods Clin Dev. 2025 Apr 18;33(2):101475. doi: 10.1016/j.omtm.2025.101475. eCollection 2025 Jun 12.
2
Liver SMN restoration rescues the Smn mouse model of spinal muscular atrophy.肝脏中生存运动神经元（SMN）的恢复挽救了脊髓性肌萎缩症的 Smn 小鼠模型。
EBioMedicine. 2024 Dec;110:105444. doi: 10.1016/j.ebiom.2024.105444. Epub 2024 Nov 7.
3
Hepatocyte-intrinsic SMN deficiency drives metabolic dysfunction and liver steatosis in spinal muscular atrophy.肝细胞内生存运动神经元（SMN）缺乏导致脊髓性肌萎缩症中的代谢功能障碍和肝脂肪变性。
J Clin Invest. 2024 May 9;134(12):e173702. doi: 10.1172/JCI173702.
4
Improved gene therapy for spinal muscular atrophy in mice using codon-optimized hSMN1 transgene and hSMN1 gene-derived promotor.使用密码子优化的 hSMN1 转基因和 hSMN1 基因启动子改善小鼠的脊髓性肌萎缩症基因治疗。
EMBO Mol Med. 2024 Apr;16(4):945-965. doi: 10.1038/s44321-024-00037-x. Epub 2024 Feb 27.
5
Innovating spinal muscular atrophy models in the therapeutic era.在治疗时代创新脊髓性肌萎缩症模型。
Dis Model Mech. 2023 Sep 1;16(9). doi: 10.1242/dmm.050352. Epub 2023 Oct 3.
6
An Overview of Nonclinical and Clinical Liver Toxicity Associated With AAV Gene Therapy.腺相关病毒基因治疗相关的非临床和临床肝脏毒性概述。
Toxicol Pathol. 2023 Oct;51(7-8):400-404. doi: 10.1177/01926233231201408. Epub 2023 Sep 29.
7
AAV-based in vivo gene therapy for neurological disorders.基于腺相关病毒的神经疾病体内基因治疗。
Nat Rev Drug Discov. 2023 Oct;22(10):789-806. doi: 10.1038/s41573-023-00766-7. Epub 2023 Sep 1.
8
Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy.onasemnogene abeparvovec 治疗的临床试验和上市后安全性
Drug Saf. 2021 Oct;44(10):1109-1119. doi: 10.1007/s40264-021-01107-6. Epub 2021 Aug 12.
9
Gain of toxic function by long-term AAV9-mediated SMN overexpression in the sensorimotor circuit.长期 AAV9 介导的 SMN 过表达在感觉运动回路中获得毒性功能。
Nat Neurosci. 2021 Jul;24(7):930-940. doi: 10.1038/s41593-021-00827-3. Epub 2021 Apr 1.
10
Overturning the Paradigm of Spinal Muscular Atrophy as Just a Motor Neuron Disease.颠覆脊髓性肌萎缩症仅仅是运动神经元疾病这一范式。
Pediatr Neurol. 2020 Aug;109:12-19. doi: 10.1016/j.pediatrneurol.2020.01.003. Epub 2020 Jan 22.
Zotero 插件